Linked Data
ClinVar Variation Id:
102605
dbSNP Id:
rs62507288
gnomAD v4:
12-102912786-C-T
ERepo:
CA229453/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912786C>T , CM000674.2:g.102912786C>T | GRCh38 |
| NC_000012.11:g.103306564C>T , CM000674.1:g.103306564C>T | GRCh37 |
| NC_000012.10:g.101830694C>T | NCBI36 |
| NG_008690.1:g.9817G>A | |
| NG_008690.2:g.50625G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.168+5G>A MANE Select | ENSP00000448059.1:n.168+5G>A | |
| ENST00000307000.7:c.153+5G>A | ENSP00000303500.2:n.153+5G>A | |
| ENST00000546844.1:c.168+5G>A | ENSP00000446658.1:n.168+5G>A | |
| ENST00000548677.2:n.255+5G>A | ||
| ENST00000548928.1:n.90+5G>A | ||
| ENST00000549111.5:n.264+5G>A | ||
| ENST00000550978.6:c.152+5G>A | ||
| ENST00000551337.5:c.168+5G>A | ENSP00000447620.1:n.168+5G>A | |
| ENST00000551988.5:n.257+5G>A | ||
| ENST00000553106.5:c.168+5G>A | ENSP00000448059.1:n.168+5G>A | |
| ENST00000635500.1:n.136+5G>A | ||
| NM_000277.1:c.168+5G>A | NP_000268.1:n.168+5G>A | |
| XM_011538422.1:c.168+5G>A | XP_011536724.1:n.168+5G>A | |
| NM_000277.2:c.168+5G>A | NP_000268.1:n.168+5G>A | |
| NM_001354304.1:c.168+5G>A | NP_001341233.1:n.168+5G>A | |
| XM_017019370.2:c.168+5G>A | XP_016874859.1:n.168+5G>A | |
| NM_000277.3:c.168+5G>A MANE Select | NP_000268.1:n.168+5G>A | |
| NM_001354304.2:c.168+5G>A | NP_001341233.1:n.168+5G>A |